Linked Data
ClinVar Variation Id:
8019
dbSNP Id:
rs137853102
ExAC:
4:108930953 C / A
gnomAD v2:
4-108930953-C-A
gnomAD v3:
4-108009797-C-A
gnomAD v4:
4-108009797-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108009797C>A , CM000666.2:g.108009797C>A | GRCh38 |
| NC_000004.11:g.108930953C>A , CM000666.1:g.108930953C>A | GRCh37 |
| NC_000004.10:g.109150402C>A | NCBI36 |
| NG_008156.2:g.25014C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.257C>A | ||
| ENST00000626637.2:c.183C>A | ENSP00000486771.1:p.Asp61Glu | |
| ENST00000638648.2:c.183C>A | ENSP00000507949.1:p.Asp61Glu | |
| ENST00000640201.2:n.257C>A | ||
| ENST00000640752.2:n.257C>A | ||
| ENST00000681992.1:n.208C>A | ||
| ENST00000682067.1:c.131C>A | ||
| ENST00000682197.1:n.255C>A | ||
| ENST00000682373.1:c.115C>A | ||
| ENST00000684696.1:c.171C>A | ENSP00000507675.1:p.Asp57Glu | |
| ENST00000309522.8:c.171C>A MANE Select | ENSP00000312288.4:p.Asp57Glu | |
| ENST00000403312.6:c.171C>A | ENSP00000385638.3:p.Asp57Glu | |
| ENST00000505878.4:c.348C>A | ENSP00000425952.2:p.Asp116Glu | |
| ENST00000507260.2:n.214C>A | ||
| ENST00000638559.1:c.120-4634C>A | ||
| ENST00000638621.1:c.133-13677C>A | ENSP00000491581.1:n.133-13677C>A | |
| ENST00000638648.1:n.322C>A | ||
| ENST00000639146.1:c.171C>A | ENSP00000492345.1:p.Asp57Glu | |
| ENST00000639335.1:c.171C>A | ENSP00000491310.1:p.Asp57Glu | |
| ENST00000639698.1:c.51C>A | ENSP00000492420.1:p.Asp17Glu | |
| ENST00000639784.1:c.35C>A | ||
| ENST00000640048.1:c.9C>A | ENSP00000492009.1:p.Asp3Glu | |
| ENST00000640060.1:c.*266C>A | ENSP00000492734.1:n.*266C>A | |
| ENST00000640201.1:n.126C>A | ||
| ENST00000640586.1:c.460C>A | ||
| ENST00000640752.1:n.250C>A | ||
| ENST00000309522.7:c.171C>A | ENSP00000312288.3:p.Asp57Glu | |
| ENST00000403312.5:c.348C>A | ENSP00000385638.2:p.Asp116Glu | |
| ENST00000505878.3:c.183C>A | ENSP00000425952.1:p.Asp61Glu | |
| ENST00000603302.5:c.171C>A | ENSP00000474560.1:p.Asp57Glu | |
| ENST00000626637.1:c.183C>A | ENSP00000486771.1:p.Asp61Glu | |
| NM_001184705.2:c.171C>A | NP_001171634.2:p.Asp57Glu | |
| NM_005327.4:c.171C>A | NP_005318.3:p.Asp57Glu | |
| XM_005262972.1:c.183C>A | XP_005263029.1:p.Asp61Glu | |
| XR_938726.1:n.320C>A | ||
| NM_001331027.1:c.183C>A | NP_001317956.1:p.Asp61Glu | |
| XR_001741214.2:n.265C>A | ||
| XR_002959727.1:n.265C>A | ||
| NM_001184705.3:c.171C>A | NP_001171634.2:p.Asp57Glu | |
| NM_005327.7:c.171C>A MANE Select | NP_005318.6:p.Asp57Glu | |
| NM_001184705.4:c.171C>A | NP_001171634.3:p.Asp57Glu | |
| NM_001331027.2:c.183C>A | NP_001317956.2:p.Asp61Glu |